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Possible mitochondrial disorder - nuclear genes

Gene: FH

Green List (high evidence)

FH (fumarate hydratase)
EnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 21 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Monoallelic variants are associated with Leiomyomatosis and renal cell cancer 150800, however, this phenotype is not appropriate for this panel (in consultation with the GMS Mitochondrial specialist test group).
Created: 16 Sep 2019, 2:39 p.m. | Last Modified: 16 Sep 2019, 2:39 p.m.
Panel Version: 1.4
Comment on mode of inheritance: The mode of inheritance for this gene is listed as bialleic, for Fumarase deficiency 606812. Monoallelic variants are associated with Leiomyomatosis and renal cell cancer 150800, which is not appropriate for this panel (in consultation with the GMS Mitochondrial specialist test group).
Created: 16 Sep 2019, 2:37 p.m. | Last Modified: 16 Sep 2019, 2:37 p.m.
Panel Version: 1.3

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Fumarase deficiency, 606812; Leiomyomatosis and renal cell cancer, 150800

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 2 Mar 2016, 11:55 a.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for fumarase deficiency.
Created: 2 Mar 2016, 11:55 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

16 Sep 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer, 150800; Fumarase deficiency, 606812 to Fumarase deficiency 606812

16 Sep 2019, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: FH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: FH was added gene: FH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FH were set to Leiomyomatosis and renal cell cancer, 150800; Fumarase deficiency, 606812